Following last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days. Dr Helen Leonard and Dr Jenny Downs were both keynote speakers. Dr Alison Anderson and PhD students Anna Urbanowicz and Stephanie Fehr also presented.
The conference was mainly about Rett syndrome, but also included presentations on the CDKL5 and the MECP2 Duplication disorders. The conference was wide ranging in its topics and there was a focus on communication, autonomic problems and ageing. Here are just some of the highlights:
In Rett syndrome, we hear a great deal about the MECP2 gene and its influences.Dr Willem Vonckenfrom the Netherlands discussed epigenetics which is the study of how environmental factors can influence how a gene works. For example, both queen bees and worker bees have the same DNA but they develop and function differently according to whether or not they eat royal jelly. The specific structure of our genes is important but there is growing awareness of how other factors in the cells or in the wider environment can influence the work of a gene. Research in this area could be helpful for Rett syndrome.
Ingegerd Witt Engerstrom from Sweden gave an overview of points to consider during clinical management. She discussed how the brainstem had important influences on breathing difficulties and coordination of movement. One of her recommendations was to includeregular and joyful activitieswithin daily routines.
Monica Coenraads from the Rett Syndrome Research Trust, USA described how we were living in a golden era for understanding rare disorders and that our growing biological understanding is opening doors for treatments in the future. She gave an overview of their very comprehensive research program. The five broad themes of the types of treatments being investigated included:
- methods of improving the proportion of activeMECP2that do not have the mutation (reducing unfavourable X inactivation);
- working on gene therapies where healthy genes are delivered via vectors such as viruses;
- boosting MeCP2 levels - testing drug compounds that might for some mutations change the folding of the proteins in the cells and make the MeCP2 function better;
- testing drugs that might influence other genes and result in better function. A clinical trial is being planned to test statins in improving function in Rett syndrome; and
- testing drugs that can impact the proteins thatMECP2would be influencing.
It was encouraging to hear of the systematic research that is investigating these potential treatments. However, it is important to remember that the biological pathways are very complex, there is still much work to be done, and researchers need to be very sure that any new treatments are safe and do not cause new problems.
Professor Walter Kaufmannfrom Boston Children's Hospital gave an update of the progress of the IGF2 clinical trial. The phase 1 clinical trial has been completed with 12 girls participating and the drug was thought to be safe and well tolerated. They are now in the early stages of a phase 2 clinical trial and are in the process of enrolling patients.